Canonical Allele Identifier: CA3306004
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74715643A>C
GRCh37 chr5:g.74011468A>C
gnomAD v2:
5:74011468 A / C
gnomAD v3:
5:74715643 A / C
gnomAD v4:
chr5-74715643-A-C
Joint Max Group AF 0.00063384 (EAS)
Genomes Max Group AF 0.00076846 (EAS)
Exomes Max Group AF 0.00054366 (EAS)
ClinVar RCV:
RCV000366647
ClinVar Variation:
354134
dbSNP:
202227927
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74715643A>C , CM000667.2:g.74715643A>C GRCh38
NC_000005.9:g.74011468A>C , CM000667.1:g.74011468A>C GRCh37
NC_000005.8:g.74047224A>C NCBI36
NG_009770.1:g.35500A>C
NG_009770.2:g.80621A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.1035A>C MANE Select ENSP00000261416.7:p.Pro345=
ENST00000261416.11:c.1035A>C ENSP00000261416.7:p.Pro345=
ENST00000504459.5:n.232A>C
ENST00000511181.5:c.360A>C ENSP00000426285.1:p.Pro120=
ENST00000513336.5:c.58A>C
NM_000521.3:c.1035A>C NP_000512.1:p.Pro345=
NM_001292004.1:c.360A>C NP_001278933.1:p.Pro120=
NM_000521.4:c.1035A>C MANE Select NP_000512.2:p.Pro345=
NM_001292004.2:c.360A>C NP_001278933.1:p.Pro120=
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